Ncaph2 non-SMC condensin II complex, subunit H2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ncaph2provided by MGI
Official Full Name: non-SMC condensin II complex, subunit H2provided by MGI
Primary source: MGI:MGI:1289164
See related: Ensembl:ENSMUSG00000008690 AllianceGenome:MGI:1289164
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes a component of the condensin-2 complex. The encoded protein may regulate the structure of mitotic chromosomes. Loss of function of this gene disrupts T-cell development. There are two pseudogenes for this gene on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
Expression: Ubiquitous expression in duodenum adult (RPKM 57.3), thymus adult (RPKM 48.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 44.84 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (89239920..89257030)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (89355719..89372850)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

mice inheriting missense mutations in a condensin II subunit (Caph2(nes)) develop T-cell lymphoma
Title: Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability.
Condensins I and II have overlapping and non-overlapping functions in Neural stem cells.
Title: Overlapping and non-overlapping functions of condensins I and II in neural stem cell divisions.
condensin II (beta-kleisin) has an essential role during meiosis I in mouse oocytes and its function overlaps with that of condensin I (gamma-kleisin), which is otherwise redundant
Title: Condensin confers the longitudinal rigidity of chromosomes.
We confirm that Ncaph2 can generate three different N-termini, all encoded by exon 1, one of which is translated from an alternative reading frame.
Title: Splice variants of the condensin II gene Ncaph2 include alternative reading frame translations of exon 1.
define a unique lineage-specific requirement for kleisin beta in mammalian T cell differentiation
Title: A mutation in a chromosome condensin II subunit, kleisin beta, specifically disrupts T cell development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15Ertd785e (e-PCR), detects polymorphism
- UniSTS:167180

RH128722 (e-PCR)
- UniSTS:212030

RH136025 (e-PCR)
- UniSTS:210021

NoName (e-PCR)
- UniSTS:237558

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within T cell differentiation in thymus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromosome condensation	IEA Inferred from Electronic Annotation more info
involved_in chromosome condensation	IEA Inferred from Electronic Annotation more info
involved_in female meiosis chromosome separation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female meiotic nuclear division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiotic chromosome condensation	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic chromosome condensation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic chromosome condensation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic sister chromatid separation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic sister chromatid separation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chromosome separation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	ISO Inferred from Sequence Orthology more info
is_active_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
part_of condensin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of condensin complex	IDA Inferred from Direct Assay more info	PubMed
part_of condensin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of condensin complex	NAS Non-traceable Author Statement more info	PubMed
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: condensin-2 complex subunit H2

Names: kleisin beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001115132.3 → NP_001108604.1 condensin-2 complex subunit H2 isoform a

See identical proteins and their annotated locations for NP_001108604.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AC113976

Consensus CDS

CCDS49700.1

UniProtKB/Swiss-Prot

Q3TNI4, Q8BSP2, Q8C2N3, Q8C3K9, Q8C4X8, Q8CAZ3, Q99L21, Q9CT99

Related

ENSMUSP00000074139.6, ENSMUST00000074552.12

Conserved Domains (3) summary

pfam06278
Location:11 → 123

CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal

pfam16858
Location:308 → 589

CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term

pfam16869
Location:147 → 247

CNDH2_M; PF16858
NM_001271600.2 → NP_001258529.1 condensin-2 complex subunit H2 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AC113976

Consensus CDS

CCDS70660.1

UniProtKB/TrEMBL

E9PY48

Related

ENSMUSP00000036900.6, ENSMUST00000036987.12

Conserved Domains (3) summary

pfam06278
Location:5 → 92

CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal

pfam16858
Location:277 → 558

CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term

pfam16869
Location:116 → 216

CNDH2_M; PF16858
NM_001271601.2 → NP_001258530.1 condensin-2 complex subunit H2 isoform c

See identical proteins and their annotated locations for NP_001258530.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (c) is longer than isoform a.

Source sequence(s)

AC113976

Consensus CDS

CCDS70661.1

UniProtKB/Swiss-Prot

Q8BSP2

Related

ENSMUSP00000086095.7, ENSMUST00000088717.7

Conserved Domains (3) summary

pfam06278
Location:11 → 123

CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal

pfam16858
Location:308 → 590

CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term

pfam16869
Location:147 → 247

CNDH2_M; PF16858
NM_001411917.1 → NP_001398846.1 condensin-2 complex subunit H2 isoform e

Status: REVIEWED

Source sequence(s)

AC113976

RNA

NR_073376.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC113976

Related

ENSMUST00000145259.8
NR_177980.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC113976
NR_177981.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC113976
NR_177982.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC113976